Incidental Mutation 'R5908:Pik3c2g'
ID 460776
Institutional Source Beutler Lab
Gene Symbol Pik3c2g
Ensembl Gene ENSMUSG00000030228
Gene Name phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma
Synonyms
MMRRC Submission 044105-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R5908 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 139591070-139915010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 139714436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 196 (R196H)
Ref Sequence ENSEMBL: ENSMUSP00000151281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111868] [ENSMUST00000218528]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000107499
Gene: ENSMUSG00000030228
AA Change: R314H

DomainStartEndE-ValueType
SCOP:d1e8xa2 1 83 4e-16 SMART
PI3Ka 103 288 7.6e-29 SMART
PI3Kc 375 637 2.11e-109 SMART
PX 661 765 1.24e-21 SMART
C2 800 897 1.34e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191013
Predicted Effect
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.8%
Validation Efficiency 97% (69/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. This gene may play a role in several diseases, including type II diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a knock-out allelel exhibit reduced liver glucogen accumulation, hyperlipidemia, adiposity and insulin resistance with age or after consumption of a high-fat diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,624,730 (GRCm39) L198H probably damaging Het
Anks1 C T 17: 28,214,993 (GRCm39) T480I probably damaging Het
Arhgef18 G A 8: 3,503,165 (GRCm39) R857Q probably damaging Het
B230208B08Rik A G 4: 78,132,297 (GRCm39) noncoding transcript Het
B9d2 T A 7: 25,382,724 (GRCm39) W33R probably damaging Het
Bcl2a1c A G 9: 114,159,572 (GRCm39) T117A probably benign Het
Btbd8 T G 5: 107,655,460 (GRCm39) D574E probably damaging Het
Cabin1 A G 10: 75,557,366 (GRCm39) S1091P probably damaging Het
Clip3 C A 7: 29,996,298 (GRCm39) D64E probably damaging Het
Col6a5 C G 9: 105,740,000 (GRCm39) D2540H possibly damaging Het
Commd5 A T 15: 76,785,136 (GRCm39) M178L probably benign Het
Crtc3 T A 7: 80,245,542 (GRCm39) H361L possibly damaging Het
Dip2b T A 15: 100,049,065 (GRCm39) L153Q possibly damaging Het
Eif2s1 T A 12: 78,926,817 (GRCm39) V189D probably damaging Het
Etl4 C T 2: 20,748,718 (GRCm39) A483V probably damaging Het
Foxo3 T C 10: 42,072,583 (GRCm39) I645V probably benign Het
Gm4841 A G 18: 60,403,506 (GRCm39) S196P possibly damaging Het
Hip1 A G 5: 135,453,717 (GRCm39) probably null Het
Il36rn G T 2: 24,167,502 (GRCm39) probably benign Het
Ints2 A G 11: 86,106,371 (GRCm39) probably null Het
Khnyn A G 14: 56,124,523 (GRCm39) D259G probably benign Het
Lyst T A 13: 13,871,346 (GRCm39) Y2694* probably null Het
Map4k2 T C 19: 6,401,346 (GRCm39) probably benign Het
Marchf10 C T 11: 105,281,065 (GRCm39) V407I probably benign Het
Mast4 C A 13: 102,874,764 (GRCm39) V1367F probably damaging Het
Mrgprb3 A T 7: 48,293,366 (GRCm39) S62T probably damaging Het
Mthfd1l T C 10: 4,039,392 (GRCm39) F801S probably damaging Het
Nhsl3 A G 4: 129,115,941 (GRCm39) S908P probably damaging Het
Notch2 T C 3: 98,031,239 (GRCm39) probably benign Het
Nr2e1 T C 10: 42,448,765 (GRCm39) S158G probably benign Het
Nup214 A G 2: 31,881,353 (GRCm39) I404V probably benign Het
Or13n4 T C 7: 106,423,404 (GRCm39) T110A probably benign Het
Pik3r3 A T 4: 116,129,955 (GRCm39) D213V probably benign Het
Pip5k1b A T 19: 24,374,501 (GRCm39) S27T possibly damaging Het
Pkp1 G A 1: 135,846,621 (GRCm39) Q44* probably null Het
Pnma8b C T 7: 16,680,968 (GRCm39) R651C unknown Het
Pnpt1 T A 11: 29,080,887 (GRCm39) S44T probably benign Het
Polb A T 8: 23,132,319 (GRCm39) probably null Het
Pom121l2 A G 13: 22,165,984 (GRCm39) N85S probably damaging Het
Prim1 A G 10: 127,853,893 (GRCm39) K104E probably damaging Het
Prl8a1 T A 13: 27,758,040 (GRCm39) Y223F probably benign Het
Rbak T G 5: 143,159,391 (GRCm39) H554P probably damaging Het
Serpina3c T C 12: 104,117,970 (GRCm39) R123G probably benign Het
Sh3bp4 T G 1: 89,073,605 (GRCm39) S818A probably damaging Het
Sh3rf3 C G 10: 58,885,270 (GRCm39) H384Q probably benign Het
Slc9a8 C T 2: 167,293,090 (GRCm39) probably benign Het
Sptbn4 T C 7: 27,103,678 (GRCm39) E1181G probably benign Het
Taf2 G A 15: 54,935,402 (GRCm39) probably benign Het
Taf7l2 A T 10: 115,949,133 (GRCm39) I131N probably benign Het
Tbc1d9 A T 8: 83,976,174 (GRCm39) M578L probably benign Het
Tinagl1 G T 4: 130,066,763 (GRCm39) Y111* probably null Het
Tor2a T C 2: 32,651,697 (GRCm39) L304P probably damaging Het
Trp53bp1 A G 2: 121,067,304 (GRCm39) V474A probably benign Het
Trrap C A 5: 144,723,518 (GRCm39) A325E probably damaging Het
Ube4a A G 9: 44,859,322 (GRCm39) probably null Het
Use1 G C 8: 71,822,257 (GRCm39) K239N probably damaging Het
Vps9d1 G T 8: 123,973,563 (GRCm39) Q407K probably benign Het
Zfp36l1 A T 12: 80,156,449 (GRCm39) S311T possibly damaging Het
Zfp729b T C 13: 67,739,374 (GRCm39) K964E probably benign Het
Zfp974 T A 7: 27,610,382 (GRCm39) M448L probably benign Het
Zfyve28 A T 5: 34,374,214 (GRCm39) V600E possibly damaging Het
Other mutations in Pik3c2g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Pik3c2g APN 6 139,841,851 (GRCm39) missense probably damaging 1.00
IGL01355:Pik3c2g APN 6 139,798,583 (GRCm39) missense probably damaging 0.98
IGL01579:Pik3c2g APN 6 139,700,467 (GRCm39) nonsense probably null
IGL01580:Pik3c2g APN 6 139,599,514 (GRCm39) missense probably damaging 0.99
IGL01587:Pik3c2g APN 6 139,700,467 (GRCm39) nonsense probably null
IGL01813:Pik3c2g APN 6 139,599,407 (GRCm39) missense possibly damaging 0.55
IGL02218:Pik3c2g APN 6 139,806,081 (GRCm39) missense probably damaging 1.00
IGL02479:Pik3c2g APN 6 139,863,730 (GRCm39) missense probably benign 0.40
IGL02480:Pik3c2g APN 6 139,798,526 (GRCm39) missense probably damaging 1.00
IGL02721:Pik3c2g APN 6 139,682,699 (GRCm39) missense probably benign 0.15
IGL02967:Pik3c2g APN 6 139,913,554 (GRCm39) missense probably damaging 0.98
IGL03221:Pik3c2g APN 6 139,718,133 (GRCm39) critical splice acceptor site probably null
FR4304:Pik3c2g UTSW 6 139,612,654 (GRCm39) frame shift probably null
FR4340:Pik3c2g UTSW 6 139,612,654 (GRCm39) frame shift probably null
FR4976:Pik3c2g UTSW 6 139,612,652 (GRCm39) frame shift probably null
IGL02837:Pik3c2g UTSW 6 139,603,562 (GRCm39) nonsense probably null
PIT4531001:Pik3c2g UTSW 6 139,805,096 (GRCm39) missense
R0002:Pik3c2g UTSW 6 139,714,471 (GRCm39) missense probably benign 0.08
R0081:Pik3c2g UTSW 6 139,903,519 (GRCm39) missense probably benign 0.05
R0098:Pik3c2g UTSW 6 139,639,441 (GRCm39) missense unknown
R0719:Pik3c2g UTSW 6 139,606,723 (GRCm39) missense probably damaging 1.00
R0740:Pik3c2g UTSW 6 139,610,791 (GRCm39) critical splice donor site probably null
R0837:Pik3c2g UTSW 6 139,903,425 (GRCm39) splice site probably benign
R0840:Pik3c2g UTSW 6 139,841,798 (GRCm39) missense probably damaging 1.00
R1306:Pik3c2g UTSW 6 139,718,154 (GRCm39) missense probably benign
R1501:Pik3c2g UTSW 6 139,789,796 (GRCm39) critical splice donor site probably null
R1591:Pik3c2g UTSW 6 139,693,904 (GRCm39) missense probably benign 0.00
R1666:Pik3c2g UTSW 6 139,612,634 (GRCm39) intron probably benign
R1907:Pik3c2g UTSW 6 139,789,768 (GRCm39) missense probably damaging 1.00
R1970:Pik3c2g UTSW 6 139,846,112 (GRCm39) critical splice donor site probably null
R1982:Pik3c2g UTSW 6 139,599,546 (GRCm39) missense probably damaging 0.97
R2171:Pik3c2g UTSW 6 139,801,012 (GRCm39) nonsense probably null
R2188:Pik3c2g UTSW 6 139,798,600 (GRCm39) missense probably damaging 1.00
R3777:Pik3c2g UTSW 6 139,599,385 (GRCm39) missense probably damaging 1.00
R3778:Pik3c2g UTSW 6 139,599,385 (GRCm39) missense probably damaging 1.00
R3965:Pik3c2g UTSW 6 139,801,018 (GRCm39) missense possibly damaging 0.90
R4076:Pik3c2g UTSW 6 139,798,589 (GRCm39) missense probably damaging 1.00
R4078:Pik3c2g UTSW 6 139,612,608 (GRCm39) intron probably benign
R4108:Pik3c2g UTSW 6 139,676,096 (GRCm39) missense probably benign 0.00
R4461:Pik3c2g UTSW 6 139,787,407 (GRCm39) intron probably benign
R4474:Pik3c2g UTSW 6 139,610,749 (GRCm39) missense probably damaging 0.99
R4509:Pik3c2g UTSW 6 139,665,732 (GRCm39) missense probably benign 0.25
R4646:Pik3c2g UTSW 6 139,665,744 (GRCm39) missense probably benign 0.05
R4732:Pik3c2g UTSW 6 139,881,711 (GRCm39) missense probably benign 0.28
R4733:Pik3c2g UTSW 6 139,881,711 (GRCm39) missense probably benign 0.28
R4854:Pik3c2g UTSW 6 139,714,505 (GRCm39) missense probably damaging 1.00
R4928:Pik3c2g UTSW 6 139,913,528 (GRCm39) missense possibly damaging 0.88
R4959:Pik3c2g UTSW 6 139,789,657 (GRCm39) missense possibly damaging 0.65
R4973:Pik3c2g UTSW 6 139,789,657 (GRCm39) missense possibly damaging 0.65
R5032:Pik3c2g UTSW 6 139,841,928 (GRCm39) missense probably benign 0.00
R5071:Pik3c2g UTSW 6 139,665,873 (GRCm39) missense probably null 0.00
R5072:Pik3c2g UTSW 6 139,665,873 (GRCm39) missense probably null 0.00
R5073:Pik3c2g UTSW 6 139,665,873 (GRCm39) missense probably null 0.00
R5074:Pik3c2g UTSW 6 139,665,873 (GRCm39) missense probably null 0.00
R5107:Pik3c2g UTSW 6 139,612,623 (GRCm39) intron probably benign
R5186:Pik3c2g UTSW 6 139,599,016 (GRCm39) missense probably damaging 1.00
R5253:Pik3c2g UTSW 6 139,841,983 (GRCm39) critical splice donor site probably null
R5359:Pik3c2g UTSW 6 139,599,121 (GRCm39) missense probably damaging 1.00
R5394:Pik3c2g UTSW 6 139,665,808 (GRCm39) missense probably benign
R5417:Pik3c2g UTSW 6 139,682,669 (GRCm39) missense probably benign
R5435:Pik3c2g UTSW 6 139,661,581 (GRCm39) splice site probably null
R5580:Pik3c2g UTSW 6 139,603,531 (GRCm39) missense probably damaging 0.99
R5664:Pik3c2g UTSW 6 139,682,733 (GRCm39) missense probably damaging 0.98
R5914:Pik3c2g UTSW 6 139,599,477 (GRCm39) missense probably benign 0.00
R6046:Pik3c2g UTSW 6 139,842,518 (GRCm39) missense probably damaging 1.00
R6046:Pik3c2g UTSW 6 139,599,137 (GRCm39) missense probably damaging 0.96
R6298:Pik3c2g UTSW 6 139,603,561 (GRCm39) missense probably damaging 1.00
R6382:Pik3c2g UTSW 6 139,665,724 (GRCm39) missense possibly damaging 0.88
R6480:Pik3c2g UTSW 6 139,676,195 (GRCm39) missense probably benign 0.27
R6917:Pik3c2g UTSW 6 139,841,899 (GRCm39) missense probably benign 0.00
R6929:Pik3c2g UTSW 6 139,903,502 (GRCm39) missense possibly damaging 0.67
R7022:Pik3c2g UTSW 6 139,599,061 (GRCm39) missense possibly damaging 0.82
R7144:Pik3c2g UTSW 6 139,606,868 (GRCm39) missense probably damaging 1.00
R7213:Pik3c2g UTSW 6 139,805,990 (GRCm39) missense
R7215:Pik3c2g UTSW 6 139,700,589 (GRCm39) missense
R7332:Pik3c2g UTSW 6 139,841,981 (GRCm39) missense
R7357:Pik3c2g UTSW 6 139,610,791 (GRCm39) critical splice donor site probably null
R7359:Pik3c2g UTSW 6 139,913,620 (GRCm39) missense unknown
R7385:Pik3c2g UTSW 6 139,801,079 (GRCm39) missense
R7455:Pik3c2g UTSW 6 139,913,643 (GRCm39) missense unknown
R7651:Pik3c2g UTSW 6 139,599,070 (GRCm39) missense possibly damaging 0.85
R7888:Pik3c2g UTSW 6 139,842,470 (GRCm39) missense
R7923:Pik3c2g UTSW 6 139,610,791 (GRCm39) critical splice donor site probably null
R7964:Pik3c2g UTSW 6 139,827,786 (GRCm39) missense
R8005:Pik3c2g UTSW 6 139,599,067 (GRCm39) missense probably benign 0.01
R8371:Pik3c2g UTSW 6 139,881,782 (GRCm39) missense unknown
R8724:Pik3c2g UTSW 6 139,913,619 (GRCm39) missense unknown
R8733:Pik3c2g UTSW 6 139,714,426 (GRCm39) nonsense probably null
R8809:Pik3c2g UTSW 6 139,714,436 (GRCm39) missense
R8888:Pik3c2g UTSW 6 139,676,092 (GRCm39) nonsense probably null
R8931:Pik3c2g UTSW 6 139,821,093 (GRCm39) missense probably benign 0.02
R9188:Pik3c2g UTSW 6 139,599,401 (GRCm39) missense possibly damaging 0.94
R9336:Pik3c2g UTSW 6 139,821,161 (GRCm39) missense
R9383:Pik3c2g UTSW 6 139,827,742 (GRCm39) nonsense probably null
R9524:Pik3c2g UTSW 6 139,606,768 (GRCm39) missense probably damaging 0.99
R9531:Pik3c2g UTSW 6 139,841,926 (GRCm39) missense
R9630:Pik3c2g UTSW 6 139,599,237 (GRCm39) missense possibly damaging 0.66
R9697:Pik3c2g UTSW 6 139,913,517 (GRCm39) missense unknown
R9708:Pik3c2g UTSW 6 139,606,865 (GRCm39) missense probably benign
R9717:Pik3c2g UTSW 6 139,841,910 (GRCm39) missense
RF015:Pik3c2g UTSW 6 139,700,497 (GRCm39) missense
RF032:Pik3c2g UTSW 6 139,612,656 (GRCm39) frame shift probably null
X0024:Pik3c2g UTSW 6 139,805,984 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTATGCACTAGAATTTACTCTGTGTCC -3'
(R):5'- TGCAGTATAGCAGGTTAGTGATTTC -3'

Sequencing Primer
(F):5'- GGGGCATGTCTCCACCAAATATG -3'
(R):5'- CATGGGCTTGCAGTGGGAAC -3'
Posted On 2017-02-28